|1.||Janel, Nathalie: 21 articles (02/2015 - 03/2003)|
|2.||Kraus, Jan P: 13 articles (01/2013 - 06/2002)|
|3.||Delabar, Jean-Maurice: 12 articles (02/2015 - 05/2005)|
|4.||Paul, Jean-Louis: 11 articles (02/2015 - 01/2007)|
|5.||Kruger, Warren D: 11 articles (08/2013 - 03/2004)|
|6.||Hamelet, Julien: 10 articles (08/2009 - 08/2006)|
|7.||Allen, Robert H: 9 articles (01/2015 - 02/2002)|
|8.||Stabler, Sally P: 9 articles (01/2015 - 02/2002)|
|9.||Noll, Christophe: 8 articles (04/2013 - 08/2007)|
|10.||Kozich, Viktor: 8 articles (07/2010 - 06/2002)|
01/01/2003 - "To explore the pathogenesis of cystathionine beta-synthase (CBS) deficiency and to test the efficacy of pharmacological therapy we examined a panel of metabolites in nine homocystinuric patients under treated and/or untreated conditions. "
02/01/2011 - "Several recent studies describing a solely vascular presentation of cystathionine beta-synthase (CBS) deficiency in adulthood prompted us to analyze the frequency of patients manifesting with vascular complications in the Czech Republic. "
04/01/2006 - "Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria."
12/01/2001 - "Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study."
01/01/1982 - "Immunochemical studies on cultured fibroblasts from patients with homocystinuria due to cystathionine beta-synthase deficiency."
07/01/2008 - "Genetic background conversion ameliorates semi-lethality and permits behavioral analyses in cystathionine beta-synthase-deficient mice, an animal model for hyperhomocysteinemia."
09/01/2008 - "Mice deficient in the cystathionine beta-synthase (CBS) gene have been exploited widely in many studies investigating the vascular pathophysiology of hyperhomocysteinemia. "
07/01/2008 - "The aim of the present study was to analyze the modifications of redox state in the liver of heterozygous cystathionine beta synthase-deficient mice, a murine model of hyperhomocysteinemia. "
03/01/2012 - "Age-related changes in visual function in cystathionine-beta-synthase mutant mice, a model of hyperhomocysteinemia."
09/30/2011 - "Cystathionine beta synthase gene dose dependent vascular remodeling in murine model of hyperhomocysteinemia."
08/01/2002 - "Early diagnosis and improved treatment are leading to the potential for increased reproductive capability in homocystinuria due to cystathionine beta-synthase (CbetaS) deficiency, but information about reproductive outcome and risk of thromboembolism in pregnancy is limited. "
01/01/1989 - "Cystathionine beta-synthase deficiency results in severe homocysteinaemia, precocious arteriosclerosis and frequent thromboembolism. "
10/01/2010 - "Cystathionine beta-synthase (CBS) deficient homocystinuria is an inherited metabolic defect that if untreated typically results in mental retardation, thromboembolism and a range of connective tissue disturbances. "
01/01/2003 - "Hereditary homocystinuria due to cystathionine beta-synthase (CBS) deficiency is a rare disease (about 1:20000 in Germany) often complicated by thromboembolism. "
11/18/1999 - "Mental retardation and other disabilities (including ectopia lentis, osteoporosis, and thromboembolism) in patients who have homocystinuria as a result of a deficiency of cystathionine beta-synthase can be prevented by the screening of newborns with measurement of blood methionine, followed by the early treatment of affected infants. "
|4.||Vascular Diseases (Vascular Disease)
02/01/2001 - "Crystallization and preliminary X-ray diffraction analysis of the active core of human recombinant cystathionine beta-synthase: an enzyme involved in vascular disease."
08/01/1998 - "Age and cystathionine beta-synthase activity in cultured fibroblasts from patients with arterial and venous vascular disease."
06/01/1992 - "Age dependency of cystathionine beta-synthase activity in human fibroblasts in homocyst(e)inemia and atherosclerotic vascular disease."
11/01/1990 - "Early signs of vascular disease in homocystinuria: a noninvasive study by ultrasound methods in eight families with cystathionine-beta-synthase deficiency."
07/01/2008 - "Cystathionine beta synthase deficiency induces hyperhomocysteinemia which is considered as a risk factor for vascular diseases. "
|5.||Down Syndrome (Down's Syndrome)
05/01/2006 - "The production of transgenic mice expressing human cystathionine beta-synthase to study Down syndrome."
01/01/2015 - "Expression of cystathionine beta-synthase and histopathological observations in placentas of patients with Down syndrome."
01/01/2015 - "Commentary on: Expression of cystathionine beta-synthase and histopathological observations in placentas of patients with Down syndrome."
03/01/2011 - "In Down's syndrome there is evidence that increased gene expression coding for specific cystathionine beta-synthase translates directly into biochemical aberrations, which result in a biochemical and metabolic imbalance of the methyl status. "
06/01/2004 - "The overproduction of H2S described in subjects with Down's syndrome probably results from the overproduction of cystathionine beta synthase, as the gene encoding this protein is located on chromosome 21."
|3.||Methylenetetrahydrofolate Reductase (NADPH2) (Methylenetetrahydrofolate Reductase)
|6.||Folic Acid (Vitamin M)
|7.||5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase (Methyltetrahydrofolate Homocysteine Methyltransferase)
|8.||Cystathionine gamma-Lyase (Cysteine Desulfhydrase)